Varaico: Literature-Extracted Genetic Variants

Gene:CLCA2
Variant:p.H924R

CLCA2

102 papers

RefSeq Summary

This gene encodes a member of the calcium-activated chloride channel regulator (CLCR) family of proteins. Members of this family regulate the transport of chloride across the plasma membrane. The enco...

Pfam Domains

CLCAaa 33–292UCSCCalcium-activated chloride channel N terminal

Gene Aliases

HGNC Name

chloride channel accessory 2

HGNC Alias Symbol

CLCRG2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006536.7
p.H924R
c.2771A>G
Surrounding Variants
1 paper
NM_006536.7
p.D934Y
c.2800G>T
1 paper
NM_006536.7
p.G914fs
c.2740_2741fs
1 paper
NM_006536.7
p.K936R
c.2807A>G
1 paper
NM_006536.7
p.P890H
c.2669C>A
1 paper
NM_006536.7
p.R867*
c.2599C>T
2 papers
NM_006536.7
p.E858K
c.2572G>A
1 paper
NM_006536.7
p.N853K
c.2559T>A
1 paper
NM_006536.7
p.N853K
c.2559T>G
1 paper
NM_006536.7
p.T845M
c.2534C>T
1 paper
NM_006536.7
p.S840L
c.2519C>T
1 paper
NM_006536.7
p.T838T
c.2514G>A
1 paper
NM_006536.7
p.I819V
c.2455A>G
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